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ACTA2 (actin, alpha 2, smooth muscle, aorta)

Identity

Alias_symbol (synonym)ACTSA
Other aliasAAT6
MYMY5
HGNC (Hugo) ACTA2
LocusID (NCBI) 59
Atlas_Id 46237
Location 10q23.31  [Link to chromosome band 10q23]
Location_base_pair Starts at 88935074 and ends at 88991397 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACTA2-AS1 (10q23.31) / ACTA2 (10q23.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ACTA2   130
LRG (Locus Reference Genomic)LRG_781
Cards
Entrez_Gene (NCBI)ACTA2  59  actin, alpha 2, smooth muscle, aorta
AliasesAAT6; ACTSA; MYMY5
GeneCards (Weizmann)ACTA2
Ensembl hg19 (Hinxton)ENSG00000107796 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107796 [Gene_View]  chr10:88935074-88991397 [Contig_View]  ACTA2 [Vega]
ICGC DataPortalENSG00000107796
TCGA cBioPortalACTA2
AceView (NCBI)ACTA2
Genatlas (Paris)ACTA2
WikiGenes59
SOURCE (Princeton)ACTA2
Genetics Home Reference (NIH)ACTA2
Genomic and cartography
GoldenPath hg38 (UCSC)ACTA2  -     chr10:88935074-88991397 -  10q23.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTA2  -     10q23.31   [Description]    (hg19-Feb_2009)
EnsemblACTA2 - 10q23.31 [CytoView hg19]  ACTA2 - 10q23.31 [CytoView hg38]
Mapping of homologs : NCBIACTA2 [Mapview hg19]  ACTA2 [Mapview hg38]
OMIM102620   611788   613834   614042   
Gene and transcription
Genbank (Entrez)AK127229 AK300353 AK300664 AK313294 AY692464
RefSeq transcript (Entrez)NM_001141945 NM_001320855 NM_001613
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTA2
Cluster EST : UnigeneHs.500483 [ NCBI ]
CGAP (NCI)Hs.500483
Alternative Splicing GalleryENSG00000107796
Gene ExpressionACTA2 [ NCBI-GEO ]   ACTA2 [ EBI - ARRAY_EXPRESS ]   ACTA2 [ SEEK ]   ACTA2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)59
GTEX Portal (Tissue expression)ACTA2
Human Protein AtlasENSG00000107796-ACTA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62736   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62736  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62736
Splice isoforms : SwissVarP62736
PhosPhoSitePlusP62736
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTA2
DMDM Disease mutations59
Blocks (Seattle)ACTA2
SuperfamilyP62736
Human Protein Atlas [tissue]ENSG00000107796-ACTA2 [tissue]
Peptide AtlasP62736
HPRD00031
IPIIPI00008603   IPI00984879   IPI01018712   IPI00645534   
Protein Interaction databases
DIP (DOE-UCLA)P62736
IntAct (EBI)P62736
FunCoupENSG00000107796
BioGRIDACTA2
STRING (EMBL)ACTA2
ZODIACACTA2
Ontologies - Pathways
QuickGOP62736
Ontology : AmiGOATP binding  extracellular space  cytoplasm  cytosol  muscle contraction  regulation of blood pressure  response to virus  positive regulation of gene expression  vascular smooth muscle contraction  actin cytoskeleton  protein kinase binding  lamellipodium  filopodium  smooth muscle contractile fiber  protein complex  cell body  extracellular exosome  glomerular mesangial cell development  mesenchyme migration  
Ontology : EGO-EBIATP binding  extracellular space  cytoplasm  cytosol  muscle contraction  regulation of blood pressure  response to virus  positive regulation of gene expression  vascular smooth muscle contraction  actin cytoskeleton  protein kinase binding  lamellipodium  filopodium  smooth muscle contractile fiber  protein complex  cell body  extracellular exosome  glomerular mesangial cell development  mesenchyme migration  
Pathways : KEGGVascular smooth muscle contraction   
NDEx NetworkACTA2
Atlas of Cancer Signalling NetworkACTA2
Wikipedia pathwaysACTA2
Orthology - Evolution
OrthoDB59
GeneTree (enSembl)ENSG00000107796
Phylogenetic Trees/Animal Genes : TreeFamACTA2
HOVERGENP62736
HOGENOMP62736
Homologs : HomoloGeneACTA2
Homology/Alignments : Family Browser (UCSC)ACTA2
Gene fusions - Rearrangements
Tumor Fusion PortalACTA2
Fusion Cancer (Beijing)ACTA2-AS1 [10q23.31]  -  ACTA2 [10q23.31]  [FUSC004230]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTA2
dbVarACTA2
ClinVarACTA2
1000_GenomesACTA2 
Exome Variant ServerACTA2
ExAC (Exome Aggregation Consortium)ENSG00000107796
GNOMAD BrowserENSG00000107796
Genetic variants : HAPMAP59
Genomic Variants (DGV)ACTA2 [DGVbeta]
DECIPHERACTA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTA2 
Mutations
ICGC Data PortalACTA2 
TCGA Data PortalACTA2 
Broad Tumor PortalACTA2
OASIS PortalACTA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACTA2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACTA2
DgiDB (Drug Gene Interaction Database)ACTA2
DoCM (Curated mutations)ACTA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTA2 (select a term)
intoGenACTA2
Cancer3DACTA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102620    611788    613834    614042   
Orphanet2373    22924    12138   
DisGeNETACTA2
MedgenACTA2
Genetic Testing Registry ACTA2
NextProtP62736 [Medical]
TSGene59
GENETestsACTA2
Target ValidationACTA2
Huge Navigator ACTA2 [HugePedia]
snp3D : Map Gene to Disease59
BioCentury BCIQACTA2
ClinGenACTA2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD59
Chemical/Pharm GKB GenePA24456
Clinical trialACTA2
Miscellaneous
canSAR (ICR)ACTA2 (select the gene name)
Probes
Litterature
PubMed208 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTA2
EVEXACTA2
GoPubMedACTA2
iHOPACTA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:01:55 CET 2017

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